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CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in <it>ARIX</it>

<p>Abstract</p> <p>Background</p> <p>To learn about the molecular etiology of strabismus, we are studying the genetic basis of 'congenital fibrosis of the extraocular muscles' (CFEOM). These syndromes are characterized by congenital restrictive ophthalmoplegia affecting muscles in the oculomotor and...

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Détails bibliographiques
Auteurs principaux: Saito Nakamichi, Matsumoto Naomichi, Ruttum Mark, Ballard Evan, London Arnold, Letson Robert, O'Keefe Michael, Johnson Roger, Lee Bjorn A, Yamada Koki, McIntosh Nathalie, Engle Elizabeth C, Collins Mary, Morris Lisa, Monte Monte, Magli Adriano, de Berardinis Teresa
Format: Artigo
Langue:Inglês
Publié: BMC 2002-03-01
Collection:BMC Genetics
Accès en ligne:http://www.biomedcentral.com/1471-2156/3/3
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